{
    "disease_id": "DOID:0080698",
    "recommended_name": {
        "id": "DOID:0080698",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080698",
        "name": "Opitz GBBB syndrome type II",
        "description": "An Opitz-GBBB syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "autosomal dominant Opitz G/BBB syndrome",
            "description": "Autosomal dominant form of Opitz G/BBB syndrome."
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "ADOS",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "GBBB syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "autosomal dominant Opitz BBB/G syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz GBBB syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "hypertelorism with esophageal Abnormality and hypospadias",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz GBBB syndrome, type II; GBBB2",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz G/BBB syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "hypertelorism-hypospadias syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "chromosome 22Q11.2 deletion syndrome, Opitz phenotype",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz-Frias syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "GBBB2",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "hypospadias-dysphagia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "autosomal dominant Opitz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "BBB syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz oculogenitolaryngeal syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "telecanthus with associated abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "telecanthus-hypospadias syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz GBBB syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "G syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz Bbbg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz-G syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007779",
            "name": "Opitz GBBB syndrome, type II",
            "description": ""
        },
        {
            "id": "MIM:145410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/145410",
            "name": "Opitz GBBB syndrome 2",
            "description": "Opitz GBBB syndrome 2"
        }
    ]
}